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Article

Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2007

Korman Stanley H, Jakobs Cornelis, Darmin Patricia S, Gutman Alisa, van der Knaap Marjo S, Ben-Neriah Ziva, Dweikat Imad, Wexler Isaiah D, Salomons Gajja S

Abstract excerpt

Glutaric aciduria type 1 (GA1) is a rare cerebral organic aciduria which typically manifests as an acute encephalopathic crisis followed by profound long-term neurological handicap. We report the diagnosis of 12 new patients from a single laboratory in Israel during a 5-year period. Eleven of the 12 were of Palestinian origin, and only two were related. One patient was asymptomatic whilst one was mildly, one...

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Identifiers

PMID: 17188916
DOI: 10.1016/j.ejpn.2006.11.006

Genes

GCDH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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